ALDH1L2 (aldehyde dehydrogenase 1 family member L2)
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Gene
Gene information from NCBI Gene database.
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| Entrez ID | 160428 |
| Gene name | Aldehyde dehydrogenase 1 family member L2 |
| Gene symbol | ALDH1L2 |
| Synonyms (NCBI Gene) |
mtFDH
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| Chromosome | 12 |
| Chromosome location | 12q23.3 |
| Summary | This gene encodes a member of both the aldehyde dehydrogenase superfamily and the formyl transferase superfamily. This member is the mitochondrial form of 10-formyltetrahydrofolate dehydrogenase (FDH), which converts 10-formyltetrahydrofolate to tetrahydr |
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miRNA
miRNA information provided by mirtarbase database.
493
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Gene ontology (GO)
Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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Other IDs
Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
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Protein
Protein information from UniProt database.
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UniProt ID
Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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Q3SY69 | |||||||||||||||||||||||||
| Protein name | Mitochondrial 10-formyltetrahydrofolate dehydrogenase (Mitochondrial 10-FTHFDH) (mtFDH) (EC 1.5.1.6) (Aldehyde dehydrogenase family 1 member L2) | |||||||||||||||||||||||||
| Protein function | Mitochondrial 10-formyltetrahydrofolate dehydrogenase that catalyzes the NADP(+)-dependent conversion of 10-formyltetrahydrofolate to tetrahydrofolate and carbon dioxide. | |||||||||||||||||||||||||
| Family and domains |
Pfam
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| Tissue specificity | TISSUE SPECIFICITY: Highly expressed in pancreas, heart, brain and skeletal muscle. {ECO:0000269|PubMed:20498374}. | |||||||||||||||||||||||||
| Sequence | ||||||||||||||||||||||||||
| Sequence length | 923 | |||||||||||||||||||||||||
| Interactions | View interactions | |||||||||||||||||||||||||
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Pathways
Pathway information has different metabolic/signaling pathways associated with genes.
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Associated diseases
Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
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Evidence Score:
★☆☆☆☆ Gene-disease association found in Text Mining only
★★☆☆☆ Found in Text Mining and Unknown/Other Associations
★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources
★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
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